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Gene: Nedd1 MGI:97293

Gene Summary

Name:

neural precursor cell expressed, developmentally down-regulated gene 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating calcium level	Nedd1^em1(IMPC)H	HET	Early adult	5.75×10^-05
increased circulating potassium level	Nedd1^em1(IMPC)H	HET	Early adult	6.85×10^-05
embryonic lethality prior to organogenesis	Nedd1^em1(IMPC)H	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Nedd1^em1(IMPC)H	HOM	Early adult	0.00
decreased circulating fructosamine level	Nedd1^em1(IMPC)H	HET	Early adult	7.65×10^-06
abnormal coat/ hair morphology	Nedd1^em1(IMPC)H	HET	Early adult	2.12×10^-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nedd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Nedd1 (0 diseases)
Human diseases predicted to be associated with Nedd1 (290 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Nedd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Adamantinoma	Hypercalcemia	ORPHA:55881
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Alpha-Heavy Chain Disease	Alopecia, Hypocalcemia	ORPHA:100025
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism	OMIM:612526
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
2P21 Microdeletion Syndrome	Long eyelashes, Hypocalcemia	ORPHA:163693
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia	OMIM:175500
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Abnormality of the frontal hairline	ORPHA:557003
Colchicine Poisoning	Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc...	ORPHA:31824
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Hypotonia-Cystinuria Syndrome	Long eyelashes, Hypocalcemia	OMIM:606407
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Generalized hirsutism	ORPHA:1563
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Intermediate Osteopetrosis	Hypocalcemia	ORPHA:210110
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
X-Linked Agammaglobulinemia	Alopecia, Hypocalcemia	ORPHA:47
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Oculoskeletodental Syndrome	Hypercalcemia, Low anterior hairline, Hypocalcemia, Low posterior hairline	OMIM:618440
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Timothy Syndrome	Hypocalcemia	OMIM:601005
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Cholera	Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration	ORPHA:173
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Autosomal Dominant Hypocalcemia	Alopecia, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia, Hypertrichosis	OMIM:235255
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Long eyelashes, Hypocalcemia	OMIM:618476
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Liddle Syndrome	Hypokalemia	ORPHA:526
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Nail dystrophy, Hypoma...	ORPHA:37042
Celiac Disease, Susceptibility To, 1	Alopecia, Hypocalcemia	OMIM:212750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia, Hypertrichosis	ORPHA:1655
Hypophosphatasia	Hypercalcemia	ORPHA:436
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Infantile Myofibromatosis	Abnormal hair morphology, Hypercalcemia	ORPHA:2591
Birk-Landau-Perez Syndrome	Long eyelashes, Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hirsutism	ORPHA:90791
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia	ORPHA:199299
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased circulating renin leve...	ORPHA:95409
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Cartilage-Hair Hypoplasia	Sparse hair, Hypocalcemia, Sparse eyebrow	ORPHA:175
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Isotretinoin-Like Syndrome	Hypocalcemia	ORPHA:2306
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Mirage Syndrome	Hyponatremia, Hyperkalemia	OMIM:617053
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Fine hair, Hypocalcemia, Sparse hair	OMIM:218330
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy	ORPHA:293978
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Abnormality of hair texture, Hypophosphatemia	ORPHA:667
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Hennekam Syndrome	Hypocalcemia, Sparse axillary hair	ORPHA:2136
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Addison Disease	Hyponatremia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased circulating renin leve...	ORPHA:85138
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Monosomy 13Q34	Horizontal eyebrow, Hypercalcemia	ORPHA:96168
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Liver Disease, Severe Congenital	Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati...	OMIM:619991
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:2785
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
22Q11.2 Deletion Syndrome	Hypocalcemia	ORPHA:567
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Long eyel...	OMIM:619503
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Synophrys, Hypercalcemia	ORPHA:476126
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Pheochromocytoma	Hypercalcemia	OMIM:171300
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia	ORPHA:275761
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany	ORPHA:83471
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Hirsutism	OMIM:219090
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Frontal balding, Hyperkalemia, Hypochloremia, Hirsutism	ORPHA:90794
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Mercury Poisoning	Hypokalemia	ORPHA:330021
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Adrenocortical Carcinoma	Hypokalemia, Hypertrichosis	ORPHA:1501
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hypokalemia, Hirsutism, Decreased circulating renin level	ORPHA:90795
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Johanson-Blizzard Syndrome	Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Front...	OMIM:243800
Digeorge Syndrome	Hypocalcemia	OMIM:188400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia	ORPHA:293987
Rabson-Mendenhall Syndrome	Thick hair, Low anterior hairline, Hypertrichosis, Premature graying of hair, Hypokalemia, Hirsut...	ORPHA:769
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Charge Syndrome	Hypocalcemia	OMIM:214800
Osteootohepatoenteric Syndrome	Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Absent axillary hair, Hypokalemia, Absent pubic hair, Decreased circulating renin level	ORPHA:90793
Ppoma	Hypercalcemia	ORPHA:97278
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Hypokalemia, Hirsutism	ORPHA:786
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Somatostatinoma	Hypercalcemia	ORPHA:97283
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Grfoma	Hypercalcemia	ORPHA:97261
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Glucagonoma	Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemi...	OMIM:219800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Sparse scalp hair, Hypoammonemia, Fine hair, Hypokalemia, Hypophosphatemia, Hyperch...	ORPHA:534
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures	OMIM:612301
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Sarcoidosis	Alopecia, Hypercalcemia	ORPHA:797
Nelson Syndrome	Hypokalemia	ORPHA:199244
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Premature graying of hair, Hypercalcemia	OMIM:194050
Leprechaunism	Facial hypertrichosis, Hypokalemia, Increased circulating renin level, Hypertrichosis	ORPHA:508
Distal Renal Tubular Acidosis	Hypokalemia	ORPHA:18
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Hypokalemia	ORPHA:91347
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase...	ORPHA:466677
Proximal Renal Tubular Acidosis	Hypokalemia, Bicarbonaturia	ORPHA:47159
Sotos Syndrome	Sparse anterior scalp hair, Hypercalcemia	ORPHA:821
Vascular Ehlers-Danlos Syndrome	Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Hypokalemia, Aplasia/Hypoplas...	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nedd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nedd1.

No publications found that use IMPC mice or data for Nedd1.

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MGI Allele	Allele Type	Produced
Nedd1^em1(IMPC)H	Exon Deletion	Mice
Nedd1^em2(IMPC)H	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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